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Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome.
Clin Genet 1994; 46(3):257-9CG

Abstract

Holt-Oram syndrome is an autosomal dominant disorder with congenital heart defects and skeletal malformations of the upper extremities. A patient with a deletion of 14q23-24 and Holt-Oram syndrome has been described. In this report, however, genetic linkage to the 14q23-24 region is excluded in a multigeneration family with five available individuals affected with Holt-Oram syndrome. Familial Holt-Oram syndrome might be different from the syndrome with the 14q23-24 deletion.

Authors+Show Affiliations

Center for Human Genetics, University of Leuven, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

7820941

Citation

Ruiz, J C., et al. "Exclusion of Linkage to 14q23-24 in a Family With Holt-Oram Syndrome." Clinical Genetics, vol. 46, no. 3, 1994, pp. 257-9.
Ruiz JC, Legius E, Cuppens H, et al. Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome. Clin Genet. 1994;46(3):257-9.
Ruiz, J. C., Legius, E., Cuppens, H., Moens, P., Marynen, P., & Cassiman, J. J. (1994). Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome. Clinical Genetics, 46(3), pp. 257-9.
Ruiz JC, et al. Exclusion of Linkage to 14q23-24 in a Family With Holt-Oram Syndrome. Clin Genet. 1994;46(3):257-9. PubMed PMID: 7820941.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome. AU - Ruiz,J C, AU - Legius,E, AU - Cuppens,H, AU - Moens,P, AU - Marynen,P, AU - Cassiman,J J, PY - 1994/9/1/pubmed PY - 1994/9/1/medline PY - 1994/9/1/entrez SP - 257 EP - 9 JF - Clinical genetics JO - Clin. Genet. VL - 46 IS - 3 N2 - Holt-Oram syndrome is an autosomal dominant disorder with congenital heart defects and skeletal malformations of the upper extremities. A patient with a deletion of 14q23-24 and Holt-Oram syndrome has been described. In this report, however, genetic linkage to the 14q23-24 region is excluded in a multigeneration family with five available individuals affected with Holt-Oram syndrome. Familial Holt-Oram syndrome might be different from the syndrome with the 14q23-24 deletion. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/7820941/Exclusion_of_linkage_to_14q23_24_in_a_family_with_Holt_Oram_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1994&volume=46&issue=3&spage=257 DB - PRIME DP - Unbound Medicine ER -